{"count":2,"next":null,"previous":null,"results":[{"gene_data":{"alias":["SMAC","DIABLO-S","FLJ25049","FLJ10537","DFNA64"],"biotype":"protein_coding","hgnc_id":"HGNC:21528","gene_name":"diablo IAP-binding mitochondrial protein","omim_gene":["605219"],"alias_name":["second mitochondria-derived activator of caspase"],"gene_symbol":"DIABLO","hgnc_symbol":"DIABLO","hgnc_release":"2017-11-03T00:00:00","ensembl_genes":{"GRch37":{"82":{"location":"12:122692210-122712081","ensembl_id":"ENSG00000184047"}},"GRch38":{"90":{"location":"12:122207662-122227534","ensembl_id":"ENSG00000184047"}}},"hgnc_date_symbol_changed":"2003-10-27"},"entity_type":"gene","entity_name":"DIABLO","confidence_level":"2","penetrance":"Complete","mode_of_pathogenicity":"","publications":["10929711","10929712","10972280","11140637","11140638","11242052","11971981","15557007","15814844","21722859","21722859","26969326"],"evidence":["Expert Review Amber","Expert","Radboud University Medical Center, Nijmegen","Emory Genetics Laboratory","UKGTN"],"phenotypes":["hearing loss","#614152:Deafness, autosomal dominant 64"],"mode_of_inheritance":"MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown","tags":[],"panel":{"id":126,"hash_id":"558ac48fbb5a16630dcfeaad","name":"Hearing loss","disease_group":"Hearing and ear disorders","disease_sub_group":"Non-syndromic hearing loss","status":"public","version":"2.2","version_created":"2019-09-03T14:01:56.987667Z","relevant_disorders":["Congenital hearing impairment","Autosomal dominant deafness","Congenital hearing impairment (profound/severe)","R67"],"stats":{"number_of_genes":358,"number_of_strs":0,"number_of_regions":0},"types":[{"name":"Rare Disease 100K","slug":"rare-disease-100k","description":"Rare Disease 100K"},{"name":"GMS Rare Disease Virtual","slug":"gms-rare-disease-virtual","description":"This is a panel for the Genomic Medicine Service for an exome/genome/panel based test that requires a virtual gene panel for rare disease in the Test Directory."},{"name":"GMS signed-off","slug":"gms-signed-off","description":"This panel has undergone review by a NHSE GMS disease specialist group and processes to be signed-off for use within the GMS."},{"name":"GMS Rare Disease","slug":"gms-rare-disease","description":"This panel type is used for GMS panels that are not virtual (i.e. could be a wet lab test)"}]}},{"gene_data":{"alias":["SMAC","DIABLO-S","FLJ25049","FLJ10537","DFNA64"],"biotype":"protein_coding","hgnc_id":"HGNC:21528","gene_name":"diablo IAP-binding mitochondrial protein","omim_gene":["605219"],"alias_name":["second mitochondria-derived activator of caspase"],"gene_symbol":"DIABLO","hgnc_symbol":"DIABLO","hgnc_release":"2017-11-03","ensembl_genes":{"GRch37":{"82":{"location":"12:122692210-122712081","ensembl_id":"ENSG00000184047"}},"GRch38":{"90":{"location":"12:122207662-122227534","ensembl_id":"ENSG00000184047"}}},"hgnc_date_symbol_changed":"2003-10-27"},"entity_type":"gene","entity_name":"DIABLO","confidence_level":"1","penetrance":null,"mode_of_pathogenicity":"","publications":["29903433","23510774"],"evidence":["Expert list"],"phenotypes":["Deafness, autosomal dominant 64 614152"],"mode_of_inheritance":"","tags":[],"panel":{"id":112,"hash_id":"55928cf522c1fc4f7d26e960","name":"Mitochondrial disorders","disease_group":"Metabolic disorders","disease_sub_group":"Mitochondrial","status":"public","version":"2.1","version_created":"2019-10-01T15:59:44.993681Z","relevant_disorders":["Lactic acidosis","All recognised syndromes and those with suggestive features"],"stats":{"number_of_genes":467,"number_of_strs":2,"number_of_regions":1},"types":[{"name":"Rare Disease 100K","slug":"rare-disease-100k","description":"Rare Disease 100K"},{"name":"GMS Rare Disease Virtual","slug":"gms-rare-disease-virtual","description":"This is a panel for the Genomic Medicine Service for an exome/genome/panel based test that requires a virtual gene panel for rare disease in the Test Directory."},{"name":"Component Of Super Panel","slug":"component-of-super-panel","description":"This panel is a component of a Super Panel"},{"name":"GMS signed-off","slug":"gms-signed-off","description":"This panel has undergone review by a NHSE GMS disease specialist group and processes to be signed-off for use within the GMS."}]}}]}